{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T07:00:40Z","timestamp":1778914840290,"version":"3.51.4"},"reference-count":21,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:sec>\n                  <jats:title>Background:<\/jats:title>\n                  <jats:p>Mutations in the sulfate transporter gene <jats:italic>SLC26A2<\/jats:italic> (<jats:italic>DTDST<\/jats:italic>) cause a continuum of skeletal dysplasia phenotypes that includes achondrogenesis type 1B (ACG1B), atelosteogenesis type 2 (AO2), diastrophic dysplasia (DTD), and recessive multiple epiphyseal dysplasia (rMED). In 1972, de la Chapelle <jats:italic>et al<\/jats:italic> reported two siblings with a lethal skeletal dysplasia, which was denoted \u201cneonatal osseous dysplasia\u201d and \u201cde la Chapelle dysplasia\u201d (DLCD). It was suggested that DLCD might be part of the <jats:italic>SLC26A2<\/jats:italic> spectrum of phenotypes, both because of the Finnish origin of the original family and of radiographic similarities to ACG1B and AO2.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective:<\/jats:title>\n                  <jats:p>To test the hypothesis whether <jats:italic>SLC26A2<\/jats:italic> mutations are responsible for DLCD.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods:<\/jats:title>\n                  <jats:p>We studied the DNA from the original DLCD family and from seven Finnish DTD patients in whom we had identified only one copy of IVS1+2T&gt;C, the common Finnish mutation. A novel <jats:italic>SLC26A2<\/jats:italic> mutation was found in all subjects, inserted by site-directed mutagenesis in a vector harbouring the <jats:italic>SLC26A2<\/jats:italic> cDNA, and expressed in sulfate transport deficient Chinese hamster ovary (CHO) cells to measure sulfate uptake activity.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results:<\/jats:title>\n                  <jats:p>We identified a hitherto undescribed <jats:italic>SLC26A2<\/jats:italic> mutation, T512K, homozygous in the affected subjects and heterozygous in both parents and in the unaffected sister. T512K was then identified as second pathogenic allele in the seven Finnish DTD subjects. Expression studies confirmed pathogenicity.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions:<\/jats:title>\n                  <jats:p>DLCD is indeed allelic to the other <jats:italic>SLC26A2<\/jats:italic> disorders. T512K is a second rare \u201cFinnish\u201d mutation that results in DLCD at homozygosity and in DTD when compounded with the milder, common Finnish mutation.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2007.057158","type":"journal-article","created":{"date-parts":[[2008,8,18]],"date-time":"2008-08-18T19:21:21Z","timestamp":1219087281000},"page":"827-831","source":"Crossref","is-referenced-by-count":24,"title":["A novel mutation in the sulfate transporter gene <i>SLC26A2<\/i> (<i>DTDST<\/i>) specific to the Finnish population causes de la Chapelle dysplasia"],"prefix":"10.1136","volume":"45","author":[{"given":"L","family":"Bonaf\u00e9","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"H\u00e4stbacka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"de la Chapelle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A B","family":"Campos-Xavier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Chiesa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Forlino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Superti-Furga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Rossi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2008,8,15]]},"reference":[{"key":"2025101711205728000_45.12.827.1","first-page":"759","article-title":"[A rare lethal bone dysplasia with recessive autosomic transmission].","volume":"29","author":"De la Chapelle","year":"1972","journal-title":"Arch Fr Pediatr"},{"key":"2025101711205728000_45.12.827.2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250105"},{"key":"2025101711205728000_45.12.827.3","doi-asserted-by":"publisher","DOI":"10.1007\/BF02388086"},{"key":"2025101711205728000_45.12.827.4","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1097\/00019605-199410000-00007","article-title":"De la Chapelle dysplasia (atelosteogenesis type II): case report and review of the literature [corrected].","volume":"3","author":"Schrander-Stumpel","year":"1994","journal-title":"Clin Dysmorphol"},{"key":"2025101711205728000_45.12.827.5","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050279"},{"key":"2025101711205728000_45.12.827.6","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.0.CO;2-N"},{"key":"2025101711205728000_45.12.827.7","first-page":"1137","article-title":"A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB.","volume":"55","author":"Superti-Furga","year":"1994","journal-title":"Am J Hum Genet"},{"key":"2025101711205728000_45.12.827.8","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90281-X"},{"key":"2025101711205728000_45.12.827.9","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.271.31.18456"},{"key":"2025101711205728000_45.12.827.10","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1111\/j.1432-1033.1997.t01-1-00741.x","article-title":"Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia\/atelosteogenesis type 2.","volume":"248","author":"Rossi","year":"1997","journal-title":"Eur J Biochem"},{"key":"2025101711205728000_45.12.827.11","doi-asserted-by":"publisher","DOI":"10.1016\/S0945-053X(98)90088-9"},{"key":"2025101711205728000_45.12.827.12","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.14.1485"},{"key":"2025101711205728000_45.12.827.13","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1"},{"key":"2025101711205728000_45.12.827.14","doi-asserted-by":"crossref","first-page":"15725","DOI":"10.1016\/S0021-9258(18)66778-X","article-title":"Sulfate transport-deficient mutants of Chinese hamster ovary cells. Sulfation of glycosaminoglycans dependent on cysteine.","volume":"261","author":"Esko","year":"1986","journal-title":"J Biol Chem"},{"key":"2025101711205728000_45.12.827.15","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi079"},{"key":"2025101711205728000_45.12.827.16","doi-asserted-by":"publisher","DOI":"10.1159\/000157098"},{"key":"2025101711205728000_45.12.827.17","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20179"},{"key":"2025101711205728000_45.12.827.18","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)14:2<115::AID-HUMU3>3.0.CO;2-2"},{"key":"2025101711205728000_45.12.827.19","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1002\/humu.9342","article-title":"Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia \u2013 multiple epiphyseal dysplasia disease group.","volume":"25","author":"Kennedy","year":"2005","journal-title":"Hum Mutat"},{"key":"2025101711205728000_45.12.827.20","doi-asserted-by":"publisher","DOI":"10.1038\/ng1319"},{"key":"2025101711205728000_45.12.827.21","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.1.65"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2007.057158","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T18:21:05Z","timestamp":1760725265000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2007.057158"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,8,15]]},"references-count":21,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2008,12,1]]},"published-print":{"date-parts":[[2008,12]]}},"alternative-id":["10.1136\/jmg.2007.057158"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2007.057158","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,8,15]]}}}